Characterization and mapping of the 5′ portion of von Willebrand factor pseudogene
- Short Communications
- Published:
- Volume 90, pages 297–298, (1992)
- Cite this article
Abstract
A genomic fragment containing the 5′ boundary of the von Willebrand factor pseudogene was cloned, partially sequenced and used for in situ hybridization experiments on metaphase spreads from a Philadelphia chromosome (Ph1)-positive chronic myelogenous leukemia patient. Data obtained indicate that the von Willebrand factor pseudogenic region is centromeric to the breakpoint cluster region on 22q11.2. This probe could be used for the study of deletions in the DiGeorge syndrome.
This is a preview of subscription content, to check access.
Access this article
Subscribe and save
- Starting from 10 chapters or articles per month
- Access and download chapters and articles from more than 300k books and 2,500 journals
- Cancel anytime
Buy Now
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Instant access to the full article PDF.
Explore related subjects
Discover the latest articles, books and news in related subjects, suggested using machine learning.References
Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, Blin N, Jalbert P, Scambler PJ (1990) Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. Genomics 7:299–306
Emanuel BS, Budarf ML, Seizinger BR (1991) Report of the committee on the genetic constitution of chromosome 22. Cytogenet Cell Genet 58:827–852
Fibinson WJ, Budarf M, McDermid H, Greenberg F, Emanuel BS (1990) Molecular studies of DiGeorge syndrome. Am J Hum Genet 46:888–895
Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-In-loes BB, Sorace JM, Alevy YG, Sadler JE (1989) Structure of the gene for the human von Willebrand factor. J Biol Chem 264:19514–19527
Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 30:253–269
Marchetti G, Patracchini P, Volinia S, Aiello V, Schiavoni M, Ciavarella N, Calzolari E, Schwienbacher C, Bernardi F (1991) Characterization of the pseudogenic and genic homologous regions of von Willebrand factor. Br J Haematol 78:71–79
Patracchini P, Calzolari E, Aiello V, Palazzi P, Banin P, Marchetti G, Bernardi F (1989) Sublocalization of von Willebrand factor pseudogene to 22q11.22–q11.23 by in situ hybridization in a 6,X,t(X;22) (pter;q11.21) translocation. Hum Genet 83:264–266
Scambler PJ, Carey A, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991) Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201–206
Rights and permissions
About this article
Cite this article
Patracchini, P., Marchetti, G., Aiello, V. et al. Characterization and mapping of the 5′ portion of von Willebrand factor pseudogene. Hum Genet 90, 297–298 (1992). https://doi.org/10.1007/BF00220083
Received:
Revised:
Issue date:
DOI: https://doi.org/10.1007/BF00220083
Share this article
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative
